Non-Invasive Prenatal Test (NIPT)
What is Non-invasive prenatal test (NIPT)?
Non-invasive prenatal testing (NIPT) is a screening method that allows the detection of the most common chromosomal aneuploidies and microdeletions in the fetus during gestation, as well as the gender. It is called non-invasive because the test is performed on blood extracted from the mother, meaning that the risk for the fetus is non-existent.
During pregnancy, small pieces of fetal DNA (cfDNA), originated from the placenta, flow into the mother’s blood stream. Cutting-edge molecular techniques allow to detect and enrich cfDNA, enabling fetal aneuploidy detection. The test has been validated for both single and twin pregnancies and IVF pregnancies.
How is it performed?
1. Sample is obtained by blood extraction from the mother, after 10 weeks of pregnancy.
2. Inform consent is signed by the mother.
3. Cell-free DNA is isolated from the mother’s blood and analyzed.
4. After just 10 days, a report is issued with practical and simple genetic information about chromosomal aneuploidies for chromosomes 13, 18, 21, X and Y and microdeletions (if requested) of the fetus. The test also allows to detect the gender of the fetus.
What does it test?
Autosomal Aneuploidies:
- Trisomy 21: Down syndrome
- Trisomy 18: Edwards syndrome
- Trisomy 13: Patau syndrome
Sex Chromosome Aneuplodies:
- Monosomy X: Turner syndrome
- Trisomy X: Triple X syndrome
- Trisomy XXY: Klinefelter syndrome
- Trisomy XYY: Jacobs syndrome
- Tetrasomy XXYY: XXYY syndrome
Microdeletions (if requested):
- DiGeorge syndrome (22q11.2)
- 1p36 deletion syndrome
- Smith-Magenis syndrome (17p11.2)
- Wolf-Hirschhorn syndrome (4p16.3)
Who can benefit?
All pregnant woman regardless the age or risk category. Although the frequency for such genetic conditions rises with the mother’s age, they can happen in any pregnancy.
Benefits of NIPT
- NIPT is more accurate than other available non-genetic screening tests (Enhanced First Trimester Screening or Maternal Serum Screening)
- NIPT can be done earlier in pregnancy than other non-genetic available screening tests.
- Because NIPT is a simple blood test, it poses no risk to the pregnancy.
